R53G (p.Arg53Gly) variant of SLC26A2 (Sulfate transporter)
R53G (p.Arg53Gly) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- gnomAD 5-149977809-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 17.40
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available